(GγAγδβ)0$({}^{\rm G}{\gamma}{}^{\rm A}{\gamma}\delta\beta)^0$‐Thalassemia: Report of two cases in a family

Abstract

AbstractCase 1 presented with severe anemia and received an intrauterine blood cell transfusion at 33 weeks of gestation. The anemia spontaneously improved in early infancy. Case 2, the father of Case 1, had an uneventful birth with no evidence of anemia, though microcytic anemia was observed during childhood. The genetic analysis of the β‐globin gene cluster identified a novel heterozygous deletion of DNA extending from the Gγ‐globin gene downstream to the β‐globin gene, confirming a diagnosis of (GγAγδβ)0‐thalassemia. In cases where thalassemia is suspected based on blood tests, a genetic diagnosis should be performed for the sake of the offspring.